ectopia lentis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. (Human Phenotype Ontology, HP_0001083)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005263
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Genes

2 gene mutations causing the ectopia lentis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
HSF4 heat shock transcription factor 4